715952000: Waardenburg Shah syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Waardenburg's syndrome\Waardenburg Shah syndrome
\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Waardenburg's syndrome\Waardenburg Shah syndrome
\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin\Waardenburg's syndrome\Waardenburg Shah syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Waardenburg's syndrome\Waardenburg Shah syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Waardenburg's syndrome\Waardenburg Shah syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Waardenburg's syndrome\Waardenburg Shah syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin\Waardenburg's syndrome\Waardenburg Shah syndrome

\Viscus structure finding\Abdominal organ finding\Bowel finding\...

\Finding of large intestine\Disorder of large intestine\...

\Motility disorder of large intestine\Hirschsprung's disease\Waardenburg Shah syndrome

\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Waardenburg Shah syndrome

\Intestinal disease\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Waardenburg Shah syndrome
\Intestinal disease\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Waardenburg Shah syndrome
\Intestinal disease\Disorder of large intestine\Motility disorder of large intestine\Hirschsprung's disease\Waardenburg Shah syndrome
\Intestinal disease\Disorder of large intestine\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Waardenburg Shah syndrome
\Intestinal disease\Dilatation of intestine\Congenital dilatation of intestinal tract\Hirschsprung's disease\Waardenburg Shah syndrome
\Intestinal disease\Functional disorder of intestine\Motility disorder of intestine\Motility disorder of large intestine\Hirschsprung's disease\Waardenburg Shah syndrome
\Intestinal disease\Intestinal autonomic neuropathy\Aganglionosis of large intestine\Hirschsprung's disease\Waardenburg Shah syndrome

\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Waardenburg's syndrome\Waardenburg Shah syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Waardenburg's syndrome\Waardenburg Shah syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Waardenburg's syndrome\Waardenburg Shah syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin\Waardenburg's syndrome\Waardenburg Shah syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Waardenburg's syndrome\Waardenburg Shah syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Waardenburg's syndrome\Waardenburg Shah syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin\Waardenburg's syndrome\Waardenburg Shah syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Waardenburg's syndrome\Waardenburg Shah syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Waardenburg's syndrome\Waardenburg Shah syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Waardenburg's syndrome\Waardenburg Shah syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin\Waardenburg's syndrome\Waardenburg Shah syndrome

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Waardenburg Shah syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Waardenburg Shah syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Waardenburg's syndrome\Waardenburg Shah syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Waardenburg's syndrome\Waardenburg Shah syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Waardenburg Shah syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Waardenburg Shah syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Waardenburg's syndrome\Waardenburg Shah syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Waardenburg's syndrome\Waardenburg Shah syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Waardenburg Shah syndrome
\Ear and auditory finding\Hearing finding\Decreased hearing\Waardenburg's syndrome\Waardenburg Shah syndrome

\Functional finding\Decline in functional status\Decreased hearing\Waardenburg's syndrome\Waardenburg Shah syndrome
\Functional finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Waardenburg Shah syndrome
\Functional finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Waardenburg's syndrome\Waardenburg Shah syndrome
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Waardenburg's syndrome\Waardenburg Shah syndrome
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Waardenburg Shah syndrome
\Functional finding\Hearing finding\Decreased hearing\Waardenburg's syndrome\Waardenburg Shah syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Waardenburg Shah syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Waardenburg's syndrome\Waardenburg Shah syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Waardenburg's syndrome\Waardenburg Shah syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Waardenburg's syndrome\Waardenburg Shah syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin\Waardenburg's syndrome\Waardenburg Shah syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Waardenburg's syndrome\Waardenburg Shah syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Waardenburg's syndrome\Waardenburg Shah syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Waardenburg's syndrome\Waardenburg Shah syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Waardenburg's syndrome\Waardenburg Shah syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin\Waardenburg's syndrome\Waardenburg Shah syndrome

\Disease\Genetic disease\Genetic disorder of skin pigmentation\Waardenburg's syndrome\Waardenburg Shah syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited autonomic nervous system disorder\Waardenburg Shah syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Waardenburg Shah syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Waardenburg Shah syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Waardenburg Shah syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Waardenburg Shah syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Waardenburg Shah syndrome
\Disease\Disorder of pigmentation\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Waardenburg's syndrome\Waardenburg Shah syndrome
\Disease\Disorder of pigmentation\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Waardenburg's syndrome\Waardenburg Shah syndrome
\Disease\Disorder of pigmentation\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin\Waardenburg's syndrome\Waardenburg Shah syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited autonomic nervous system disorder\Waardenburg Shah syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Waardenburg Shah syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Waardenburg Shah syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Waardenburg Shah syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Waardenburg Shah syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Waardenburg Shah syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Waardenburg's syndrome\Waardenburg Shah syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Waardenburg's syndrome\Waardenburg Shah syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Waardenburg Shah syndrome
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Waardenburg's syndrome\Waardenburg Shah syndrome
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Waardenburg's syndrome\Waardenburg Shah syndrome
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin\Waardenburg's syndrome\Waardenburg Shah syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Waardenburg Shah syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Waardenburg's syndrome\Waardenburg Shah syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Waardenburg's syndrome\Waardenburg Shah syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Waardenburg's syndrome\Waardenburg Shah syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin\Waardenburg's syndrome\Waardenburg Shah syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Waardenburg's syndrome\Waardenburg Shah syndrome
\Disease\Disorder of body system\Neurological disorder\Neuropathy\Autonomic neuropathy\Intestinal autonomic neuropathy\Aganglionosis of large intestine\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited autonomic nervous system disorder\Waardenburg Shah syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital malformation of autonomic nervous system\Aganglionosis of large intestine\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of the peripheral nervous system\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Disorder of peripheral autonomic nervous system\Intestinal autonomic neuropathy\Aganglionosis of large intestine\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Congenital anomaly of the peripheral nervous system\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of autonomic nervous system\Inherited autonomic nervous system disorder\Waardenburg Shah syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of autonomic nervous system\Congenital malformation of autonomic nervous system\Aganglionosis of large intestine\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of autonomic nervous system\Autonomic neuropathy\Intestinal autonomic neuropathy\Aganglionosis of large intestine\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of autonomic nervous system\Disorder of peripheral autonomic nervous system\Intestinal autonomic neuropathy\Aganglionosis of large intestine\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Waardenburg Shah syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Dilatation of gastrointestinal tract\Dilatation of intestine\Congenital dilatation of intestinal tract\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Intestinal disease\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Intestinal disease\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Intestinal disease\Disorder of large intestine\Motility disorder of large intestine\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Intestinal disease\Disorder of large intestine\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Intestinal disease\Dilatation of intestine\Congenital dilatation of intestinal tract\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Intestinal disease\Functional disorder of intestine\Motility disorder of intestine\Motility disorder of large intestine\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Intestinal disease\Intestinal autonomic neuropathy\Aganglionosis of large intestine\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Congenital anomaly of digestive organ\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Congenital anomaly of digestive organ\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Intestinal disease\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Intestinal disease\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Intestinal disease\Disorder of large intestine\Motility disorder of large intestine\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Intestinal disease\Disorder of large intestine\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Intestinal disease\Dilatation of intestine\Congenital dilatation of intestinal tract\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Intestinal disease\Functional disorder of intestine\Motility disorder of intestine\Motility disorder of large intestine\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Intestinal disease\Intestinal autonomic neuropathy\Aganglionosis of large intestine\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Disorder of body system\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Disorder of body system\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Disorder of body system\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Disorder of body system\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Disorder of large intestine\Motility disorder of large intestine\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Disorder of large intestine\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Dilatation of intestine\Congenital dilatation of intestinal tract\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Functional disorder of intestine\Motility disorder of intestine\Motility disorder of large intestine\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Intestinal autonomic neuropathy\Aganglionosis of large intestine\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Waardenburg's syndrome\Waardenburg Shah syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital malformation of autonomic nervous system\Aganglionosis of large intestine\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of the peripheral nervous system\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Waardenburg's syndrome\Waardenburg Shah syndrome
\Disease\Congenital disease\Congenital hearing disorder\Congenital sensorineural hearing loss\Waardenburg Shah syndrome
\Disease\Congenital disease\Congenital hearing disorder\Waardenburg's syndrome\Waardenburg Shah syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Waardenburg's syndrome\Waardenburg Shah syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Waardenburg's syndrome\Waardenburg Shah syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin\Waardenburg's syndrome\Waardenburg Shah syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Waardenburg's syndrome\Waardenburg Shah syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Waardenburg's syndrome\Waardenburg Shah syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Waardenburg's syndrome\Waardenburg Shah syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin\Waardenburg's syndrome\Waardenburg Shah syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Waardenburg Shah syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Waardenburg's syndrome\Waardenburg Shah syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital malformation of autonomic nervous system\Aganglionosis of large intestine\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of the peripheral nervous system\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Waardenburg Shah syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Waardenburg's syndrome\Waardenburg Shah syndrome

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3304234014 Waardenburg syndrome co-occurrent with Hirschsprung disease en Synonym Active Case sensitive SNOMED CT core

3304235010 Waardenburg Shah syndrome en Synonym Active Case sensitive SNOMED CT core

3304236011 Waardenburg Hirschsprung syndrome en Synonym Active Case sensitive SNOMED CT core

3304237019 Shah Waardenburg syndrome en Synonym Active Case sensitive SNOMED CT core

3304238012 Waardenburg syndrome type 4 en Synonym Active Case sensitive SNOMED CT core

5143439013 Waardenburg Shah syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core

3304239016 The association of Waardenburg syndrome and Hirschsprung disease. Patients present in the neonatal period with pigmentary anomalies (including white forelock, white eyebrows and eyelashes, white skin patches and pigmentary anomalies of the irides) in association with intestinal obstruction. Neurosensorial deafness is common and early, and may be unilateral. Psychomotor development is normal. Three disease-causing genes have been identified so far: EDNRB (13q22.3) encoding the endothelin-B receptor, EDN3 (20q13.32) encoding an endothelin receptor ligand and SOX10 (22q13.1) encoding the SOX10 transcription factor. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Waardenburg Shah syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Waardenburg Shah syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Some	3
Waardenburg Shah syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Waardenburg Shah syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	4
Waardenburg Shah syndrome	Associated morphology	Hypertrophy	true	Inferred relationship	Some	2
Waardenburg Shah syndrome	Associated morphology	Hypopigmentation	true	Inferred relationship	Some	4
Waardenburg Shah syndrome	Associated morphology	Dilatation	true	Inferred relationship	Some	1
Waardenburg Shah syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	5
Waardenburg Shah syndrome	Occurrence	Congenital	true	Inferred relationship	Some	5
Waardenburg Shah syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	5
Waardenburg Shah syndrome	Interprets	Hearing	true	Inferred relationship	Some	6
Waardenburg Shah syndrome	Finding site	Structure of peripheral part of autonomic nervous system	true	Inferred relationship	Some	7
Waardenburg Shah syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	7
Waardenburg Shah syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	7
Waardenburg Shah syndrome	Has interpretation	Decreased	true	Inferred relationship	Some	6
Waardenburg Shah syndrome	Finding site	Structure of auditory system	true	Inferred relationship	Some	3
Waardenburg Shah syndrome	Is a	Congenital sensorineural hearing loss	true	Inferred relationship	Some
Waardenburg Shah syndrome	Is a	Autosomal hereditary disorder	true	Inferred relationship	Some
Waardenburg Shah syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Waardenburg Shah syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Waardenburg Shah syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Waardenburg Shah syndrome	Is a	Waardenburg's syndrome	true	Inferred relationship	Some
Waardenburg Shah syndrome	Is a	Hirschsprung's disease	true	Inferred relationship	Some
Waardenburg Shah syndrome	Is a	Digestive system hereditary disorder	true	Inferred relationship	Some
Waardenburg Shah syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Waardenburg Shah syndrome	Finding site	Parasympathetic nervous system structure	false	Inferred relationship	Some
Waardenburg Shah syndrome	Finding site	Autonomic nerve structure	true	Inferred relationship	Some	5
Waardenburg Shah syndrome	Occurrence	Congenital	false	Inferred relationship	Some	6
Waardenburg Shah syndrome	Finding site	Colon structure	false	Inferred relationship	Some	6
Waardenburg Shah syndrome	Occurrence	Congenital	true	Inferred relationship	Some	7
Waardenburg Shah syndrome	Occurrence	Congenital	false	Inferred relationship	Some	8
Waardenburg Shah syndrome	Associated morphology	Congenital dilatation	false	Inferred relationship	Some	6
Waardenburg Shah syndrome	Finding site	Colon structure	false	Inferred relationship	Some	7
Waardenburg Shah syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	8
Waardenburg Shah syndrome	Finding site	Face structure	false	Inferred relationship	Some	8
Waardenburg Shah syndrome	Associated morphology	Congenital hypertrophy	false	Inferred relationship	Some	7
Waardenburg Shah syndrome	Is a	Inherited autonomic nervous system disorder	true	Inferred relationship	Some
Waardenburg Shah syndrome	Associated morphology	Congenital dilatation	false	Inferred relationship	Some	1
Waardenburg Shah syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Waardenburg Shah syndrome	Finding site	Large intestine part	true	Inferred relationship	Some	1
Waardenburg Shah syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Waardenburg Shah syndrome	Finding site	Large intestine part	true	Inferred relationship	Some	2
Waardenburg Shah syndrome	Associated morphology	Congenital hypertrophy	false	Inferred relationship	Some	1
Waardenburg Shah syndrome	Associated morphology	Congenital dilatation	false	Inferred relationship	Some	2
Waardenburg Shah syndrome	Finding site	Ear structure	false	Inferred relationship	Some	3
Waardenburg Shah syndrome	Finding site	Skin structure	true	Inferred relationship	Some	4
Waardenburg Shah syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Waardenburg Shah syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
Waardenburg Shah syndrome	Finding site	Ear structure	false	Inferred relationship	Some	4
Waardenburg Shah syndrome	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Some	3
Waardenburg Shah syndrome	Finding site	Skin structure	false	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3304234014	Waardenburg syndrome co-occurrent with Hirschsprung disease	en	Synonym	Active	Case sensitive	SNOMED CT core
3304235010	Waardenburg Shah syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3304236011	Waardenburg Hirschsprung syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3304237019	Shah Waardenburg syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3304238012	Waardenburg syndrome type 4	en	Synonym	Active	Case sensitive	SNOMED CT core
5143439013	Waardenburg Shah syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3304239016	The association of Waardenburg syndrome and Hirschsprung disease. Patients present in the neonatal period with pigmentary anomalies (including white forelock, white eyebrows and eyelashes, white skin patches and pigmentary anomalies of the irides) in association with intestinal obstruction. Neurosensorial deafness is common and early, and may be unilateral. Psychomotor development is normal. Three disease-causing genes have been identified so far: EDNRB (13q22.3) encoding the endothelin-B receptor, EDN3 (20q13.32) encoding an endothelin receptor ligand and SOX10 (22q13.1) encoding the SOX10 transcription factor.	en	Definition	Active	Case sensitive	SNOMED CT core